Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.N1561_S1562delFs
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DSP

NM_004415.4:p.N1561_S1562delFs

Associated Papers

Genetic predisposition and the impact of missense genetic variants on the structural and functional protein dynamics in idiopathic pulmonary fibrosis.

Barney AM et al.

Lung India : Official Organ of Indian Chest Society, 2025

An induced pluripotent stem cell line (EHTJUi004-A) generated from a neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP causing Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD).

Qi YY et al.

Stem Cell Research, 2021

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